Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918803
rs121918803
SCN1A ; SCN1A-AS1 ; LOC102724058
0.010 GeneticVariation BEFREE This 20-year-old man had infantile-onset epilepsy with the classical clinical features of Dravet syndrome and a de novo A1326P SCN1A mutation. 28233668

2017